NeurogeneticsHumansIranGaucher DiseaseMaleFemale
Gaucher syndrome: report of six cases and review of genetic mutations among Iranian patients.
Mohammad Miryounesi, Mohadeseh Fathi, Sheyda Khalilian, Faezeh Sherafat, Soudeh Ghafouri-Fard, Shadab Salehpour
Published: 202510.1007/s10048-025-00853-4
Abstract
Gaucher disease (GD) is a lysosomal storage disorder with an autosomal recessive inheritance pattern. The clinical manifestation of the GD arises from lack of appropriate metabolism of a fatty substance called glucocerebroside, predominantly within t…
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